Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA532694341

Gene: NRXN1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1372662807

gnomAD v2: 2-52072348-AAC-A

gnomAD v3: 2-51845210-AAC-A

gnomAD v4: 2-51845210-AAC-A

MyVariant Identifiers: chr2:g.52072349_52072350del (hg19) chr2:g.51845211_51845212del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.51845214_51845215del , CM000664.2:g.51845214_51845215del	GRCh38
NC_000002.11:g.52072352_52072353del , CM000664.1:g.52072352_52072353del	GRCh37
NC_000002.10:g.51925856_51925857del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_245003.1:n.840-16235_840-16234del
NR_135237.1:n.840-16235_840-16234del

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